#ScienceSaturday: October 26, 2019

#ScienceSaturday posts share relevant and exciting scientific news with the KAND community, and are compiled by Alejandro Doval. Alejandro is from Spain and serves as Team Leader of the KIF1A.ORG parent-led Research Engagement Team. Send news suggestions to our team at impact@kif1a.org.

Recent KIF1A-Related Research

KAND Conference Presentation Recordings Available

We are dedicated to making the latest KIF1A research and data freely and easily accessible. Now you can watch 14 presentations and download slides from our KAND Family & Scientific Engagement Conference, featuring parent, scientist and clinician speakers.

Rare Disease News

New CRISPR Genome Editing System Offers a Wide Range of Versatility in Human Cells

“A team from the Broad Institute of MIT and Harvard has
developed a new CRISPR genome-editing approach … The system, called ‘prime
editing,’ is capable of directly editing human cells in a precise, efficient,
and highly versatile fashion. The approach expands the scope of gene editing
for biological and therapeutics research, and has the potential to correct up
to 89 percent of known disease-causing genetic variations.”

Credit : Susanna M. Hamilton, Broad Institute Communications

This announcement has generated a lot of buzz and excitement in the scientific and rare disease community—some even calling it “groundbreaking” and “game-changing.” The team behind “prime editing” admits there is more work to do, including sorting out a delivery mechanism to actually apply the approach in animal models and humans. We’ll be monitoring this development closely to see what this may mean for future therapeutic options for genetic diseases like KAND.

Dr. Sharpless’s remarks to the 2019 NORD Conference on Rare Diseases

This week Acting Commissioner of the FDA, Norman “Ned” Sharpless, shared remarks during the 2019 NORD Rare Diseases and Orphan Products Breakthrough Summit. His speech included an overview of the current progress and challenges in the rare disease drug development landscape.

“I think that a good place to start is with the recognition that rare disease therapies are being developed at a faster pace than ever before.”

Study Focuses On Repair And Reversal Of Damage Caused By Huntington’s Disease

“A new study examining the role that star-shaped brain cells
called astrocytes [a type of glial cell] play in Huntington’s disease has
identified a potential strategy that may halt the disease and repair some of
the damage it causes.”

The study’s lead investigator noted “the findings add to a
growing body of evidence that suggests impaired astrocytes play a role in many
neurological diseases.” This may be true for KAND as well. In fact, the KIF1A
Research Team is working to unpack what part of KAND is related to nerve
cells and what part is related to glial cells.

Bonus Resource: Want to Learn More About Glial Cells & Astrocytes?

A father’s fight to help his sons — and fix clinical trials

Nick Sireau quit his job to help find an effective treatment for his sons’ rare disease. Credit: Brian David Stevens

Originally published in January 2019, here’s an encouraging account about a parent’s fight to find treatment for his sons and why patient input and engagement is critical to a successful drug development process.

Comments

[…] the hype of the prime editing announcement (which we covered in the October 26 edition of #ScienceSaturday), it’s insightful to have a closer look at prime editing through what feels like an informal […]